Canonical Allele Identifier: CA2340622857

Gene: PNKP

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49862413_49862417delinsGAGAA , CM000681.2:g.49862413_49862417delinsGAGAA	GRCh38
NC_000019.9:g.50365670_50365674delinsGAGAA , CM000681.1:g.50365670_50365674delinsGAGAA	GRCh37
NC_000019.8:g.55057482_55057486delinsGAGAA	NCBI36
NG_027717.1:g.10149_10153delinsTTCTC
NG_050666.1:g.18570_18574delinsGAGAA

Transcript Alleles

HGVS	Amino-acid change
ENST00000322344.8:c.983_987delinsTTCTC MANE Select	ENSP00000323511.2:p.Phe328=
ENST00000322344.7:c.983_987delinsTTCTC	ENSP00000323511.2:p.Phe328=
ENST00000593706.3:n.338_342delinsTTCTC
ENST00000593946.5:c.*910_*914delinsTTCTC	ENSP00000468896.1:n.*910_*914delinsTTCTC
ENST00000594661.5:n.1484_1488delinsTTCTC
ENST00000596014.5:c.983_987delinsTTCTC	ENSP00000472300.1:p.Phe328=
ENST00000600573.5:c.936+121_936+125delinsTTCTC	ENSP00000469826.1:n.936+121_936+125delins...
ENST00000600910.5:c.983_987delinsTTCTC	ENSP00000473137.1:p.Phe328=
ENST00000625216.2:c.161_165delinsTTCTC	ENSP00000486898.1:p.Phe54=
ENST00000627232.2:c.903_907delinsTTCTC	ENSP00000486037.1:n.903_907delinsTTCTC
ENST00000627317.1:c.604_608delinsTTCTC
ENST00000629179.1:n.754_758delinsTTCTC
ENST00000631020.2:c.875_879delinsTTCTC	ENSP00000486707.1:p.Phe292=
NM_007254.3:c.983_987delinsTTCTC	NP_009185.2:p.Phe328=
NM_007254.4:c.983_987delinsTTCTC MANE Select	NP_009185.2:p.Phe328=